Brain tumor

脑肿瘤
  • 文章类型: Journal Article
    脑肿瘤(BT)是一种可怕的疾病,是人类死亡的首要原因之一。BT主要分两个阶段发展,数量不同,形式,和结构,并且可以通过特殊的临床程序例如化学疗法来治愈,放射治疗,和外科调解。在过去的几年中,随着影像组学和医学影像研究的革命性进步,计算机辅助诊断系统(CAD)尤其是深度学习,在各种疾病的自动检测和诊断中发挥了关键作用,并为医学临床医生提供了准确的决策支持系统。因此,卷积神经网络(CNN)是一种常用的方法,用于从医学图像中检测各种疾病,因为它能够从所研究的图像中提取不同的特征。在这项研究中,利用深度学习方法从大脑图像中提取不同的特征以检测BT。因此,从头开始开发CNN和迁移学习模型(VGG-16,VGG-19和LeNet-5),并在大脑图像上进行测试,以构建用于检测BT的智能决策支持系统。由于深度学习模型需要大量数据,数据增强用于综合填充现有数据集,以便利用最佳拟合检测模型。进行超参数调整以设置用于训练模型的最佳参数。取得的结果表明,VGG模型以99.24%的准确率优于其他模型,平均精度99%,平均召回99%,平均特异性99%,平均f1得分各99%。与文献中的其他最先进的模型相比,所提出的模型的结果表明,所提出的模型在准确性方面具有更好的性能,灵敏度,特异性,和f1-score。此外,比较分析表明,所提出的模型是可靠的,因为它们可以用于检测BT以及帮助医生诊断BT。
    Brain tumor (BT) is an awful disease and one of the foremost causes of death in human beings. BT develops mainly in 2 stages and varies by volume, form, and structure, and can be cured with special clinical procedures such as chemotherapy, radiotherapy, and surgical mediation. With revolutionary advancements in radiomics and research in medical imaging in the past few years, computer-aided diagnostic systems (CAD), especially deep learning, have played a key role in the automatic detection and diagnosing of various diseases and significantly provided accurate decision support systems for medical clinicians. Thus, convolution neural network (CNN) is a commonly utilized methodology developed for detecting various diseases from medical images because it is capable of extracting distinct features from an image under investigation. In this study, a deep learning approach is utilized to extricate distinct features from brain images in order to detect BT. Hence, CNN from scratch and transfer learning models (VGG-16, VGG-19, and LeNet-5) are developed and tested on brain images to build an intelligent decision support system for detecting BT. Since deep learning models require large volumes of data, data augmentation is used to populate the existing dataset synthetically in order to utilize the best fit detecting models. Hyperparameter tuning was conducted to set the optimum parameters for training the models. The achieved results show that VGG models outperformed others with an accuracy rate of 99.24%, average precision of 99%, average recall of 99%, average specificity of 99%, and average f1-score of 99% each. The results of the proposed models compared to the other state-of-the-art models in the literature show better performance of the proposed models in terms of accuracy, sensitivity, specificity, and f1-score. Moreover, comparative analysis shows that the proposed models are reliable in that they can be used for detecting BT as well as helping medical practitioners to diagnose BT.
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  • 文章类型: Journal Article
    人工智能(AI)在医疗领域的出现有望改善医疗管理,特别是在脑肿瘤诊断和治疗的个性化策略中。然而,将人工智能融入临床实践已被证明是一个挑战。深度学习(DL)对于从病史和影像记录中增加的大量数据中提取相关信息非常方便,这缩短了诊断时间,否则会压倒手动方法。此外,DL有助于自动肿瘤分割,分类,和诊断。DL模型,例如脑肿瘤分类模型和Inception-ResnetV2,或者增强这些功能并将DL网络与支持向量机和k近邻相结合的混合技术,确定肿瘤表型和脑转移,允许实时决策和加强术前计划。AI算法和DL开发促进了放射学诊断,如计算机断层扫描,正电子发射断层扫描,和磁共振成像(MRI)通过使用DenseNet和3D卷积神经网络架构集成二维和三维MRI,能够精确描绘肿瘤。DL在神经介入手术中提供了好处,和转向计算机辅助干预承认需要更准确和有效的图像分析方法。需要进一步的研究来认识到DL在改善这些结果方面的潜在影响。
    The emergence of artificial intelligence (AI) in the medical field holds promise in improving medical management, particularly in personalized strategies for the diagnosis and treatment of brain tumors. However, integrating AI into clinical practice has proven to be a challenge. Deep learning (DL) is very convenient for extracting relevant information from large amounts of data that has increased in medical history and imaging records, which shortens diagnosis time, that would otherwise overwhelm manual methods. In addition, DL aids in automated tumor segmentation, classification, and diagnosis. DL models such as the Brain Tumor Classification Model and the Inception-Resnet V2, or hybrid techniques that enhance these functions and combine DL networks with support vector machine and k-nearest neighbors, identify tumor phenotypes and brain metastases, allowing real-time decision-making and enhancing preoperative planning. AI algorithms and DL development facilitate radiological diagnostics such as computed tomography, positron emission tomography scans, and magnetic resonance imaging (MRI) by integrating two-dimensional and three-dimensional MRI using DenseNet and 3D convolutional neural network architectures, which enable precise tumor delineation. DL offers benefits in neuro-interventional procedures, and the shift toward computer-assisted interventions acknowledges the need for more accurate and efficient image analysis methods. Further research is needed to realize the potential impact of DL in improving these outcomes.
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  • 文章类型: Journal Article
    简介本研究旨在评估与标准全脑面罩相比,新垫片面罩在脑转移瘤或肿瘤的立体定向放射外科(SRS)和放射治疗(SRT)治疗中的设置准确性。方法采用回顾性和前瞻性相结合的设计,涉及在我们中心治疗的40名患者。先前使用标准头罩治疗的患者组成了回顾性队列,而接受Shim面罩和口腔咬伤治疗的患者则构成了预期队列。在每次治疗之前获得每日锥形束计算机断层扫描(CBCT)扫描,以确保患者设置的准确性。关键指标包括平移和旋转方向的绝对位移,重复CBCT的数量,和CBCT之间的时间间隔。结果垫片掩模显著降低了横向平移的平均设置误差(p=0.022)从0.17cm(SD=0.10)降低到0.10cm(SD=0.10),并且在X轴旋转(p=0.030)中从0.79°(SD=0.43)到0.47°(SD=0.47)。通过考虑平移方向为1毫米,旋转方向为1°的截止点,垫片掩模在横向方向上明显更准确(p=0.004)。此外,而标准组中70%的患者需要重复CBCT扫描,Shim小组中没有人这样做,导致每名患者平均节省10.4分钟的时间。结论带口腔咬伤的Shim面罩在SRT/SRS治疗中提供了更高的固定准确性,通过减少重复CBCT扫描的需要,从而节省时间和潜在的成本。这强调了采用创新的固定技术来优化患者结果的重要性。
    Introduction This study aimed to evaluate the setup accuracy of the new shim mask with mouth bite compared to the standard full brain mask in stereotactic radiosurgery (SRS) and radiotherapy (SRT) treatments for brain metastases or tumors. Method A combined retrospective and prospective design was employed, involving 40 patients treated at our center. Patients previously treated using standard head masks formed the retrospective cohort, while those treated with the Shim mask and mouth bite formed the prospective cohort. Daily cone-beam computed tomography (CBCT) scans were obtained before each treatment session to ensure patient setup accuracy. Key metrics included absolute shifts in translational and rotational directions, the number of repeat CBCTs, and the time interval between CBCTs. Results The Shim mask significantly reduced the mean setup errors in the lateral translation (p=0.022) from 0.17 cm (SD=0.10) to 0.10 cm (SD=0.10), and in X-axis rotation (p=0.030) from 0.79° (SD=0.43) to 0.47° (SD=0.47). By considering cutoff points of 1 mm in translational and 1° in rotational directions, the Shim mask was significantly more accurate in the lateral direction (p=0.004). Moreover, while 70% of patients in the standard group required repeat CBCT scans, none in the Shim group did, resulting in an average time saving of 10.4 minutes per patient. Conclusion The Shim mask with mouth bite offers enhanced immobilization accuracy in SRT/SRS treatments, leading to time and potential cost savings by reducing the need for repeat CBCT scans. This underscores the importance of adopting innovative immobilization techniques to optimize patient outcomes.
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  • 文章类型: Journal Article
    对紧急神经成像的需求正在增加。甚至磁共振成像(MRI)也经常在办公时间以外进行,有时会发现更多不常见的实体,如脑肿瘤。研究人工智能(AI)方法在成像中对脑肿瘤进行分类的科学文献正在增长,但是关于放射科医生在这项任务上的表现的知识却出奇的缺乏。我们的研究旨在暂时填补这一知识空白。我们假设放射科医生可以在急诊科以临床上可接受的准确性对轴内脑肿瘤进行分类。我们回顾性检查了2013年至2021年的急诊脑MRI报告,纳入标准是(1)急诊脑MRI,(2)先前没有已知的轴内脑肿瘤,和(3)在紧急MRI报告中怀疑轴内脑肿瘤。将肿瘤类型提示和最终的临床诊断分为:(1)神经胶质肿瘤,(2)转移,(3)淋巴瘤,(4)其他肿瘤。最终的研究样本包括150名患者,其中108例具有组织病理学肿瘤类型确认。在组织病理学确认肿瘤类型的患者中,MRI报告对胶质瘤的肿瘤类型进行分类的准确性为0.86,而不是其他肿瘤类型,转移0.89,淋巴瘤为0.99。我们发现结果令人鼓舞,鉴于对紧急成像的大量需求。
    Demand for emergency neuroimaging is increasing. Even magnetic resonance imaging (MRI) is often performed outside office hours, sometimes revealing more uncommon entities like brain tumors. The scientific literature studying artificial intelligence (AI) methods for classifying brain tumors on imaging is growing, but knowledge about the radiologist\'s performance on this task is surprisingly scarce. Our study aimed to tentatively fill this knowledge gap. We hypothesized that the radiologist could classify intra-axial brain tumors at the emergency department with clinically acceptable accuracy. We retrospectively examined emergency brain MRI reports from 2013 to 2021, the inclusion criteria being (1) emergency brain MRI, (2) no previously known intra-axial brain tumor, and (3) suspicion of an intra-axial brain tumor on emergency MRI report. The tumor type suggestion and the final clinical diagnosis were pooled into groups: (1) glial tumors, (2) metastasis, (3) lymphoma, and (4) other tumors. The final study sample included 150 patients, of which 108 had histopathological tumor type confirmation. Among the patients with histopathological tumor type confirmation, the accuracy of the MRI reports in classifying the tumor type was 0.86 for gliomas against other tumor types, 0.89 for metastases, and 0.99 for lymphomas. We found the result encouraging, given the prolific need for emergency imaging.
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  • 文章类型: Journal Article
    脑肿瘤是全球死亡的主要原因,恶性肿瘤有多种类型,只有12%的被诊断患有脑癌的成年人存活超过五年。这项研究引入了一种超参数卷积神经网络(CNN)模型来识别脑肿瘤,具有重大的实际意义。通过微调CNN模型的超参数,优化特征提取,系统地降低模型复杂度,从而提高脑肿瘤诊断的准确性。关键超参数包括批量大小,层计数,学习率,激活函数,汇集策略,填充,和过滤器尺寸。超参数调整的CNN模型在Kaggle提供的三个不同的脑MRI数据集上进行了训练,产生优异的性能分数,准确度的平均值为97%,精度,召回,和F1得分。我们的优化模型是有效的,正如我们与最先进的方法进行有条理的比较所证明的那样。我们的超参数修改增强了模型性能并增强了其泛化能力,给医生一个更准确和有效的工具来做出关于脑肿瘤诊断的关键判断。我们的模型是朝着值得信赖和准确的医疗诊断的正确方向迈出的重要一步,对改善患者预后具有实际意义。
    Brain tumors are a leading cause of death globally, with numerous types varying in malignancy, and only 12% of adults diagnosed with brain cancer survive beyond five years. This research introduces a hyperparametric convolutional neural network (CNN) model to identify brain tumors, with significant practical implications. By fine-tuning the hyperparameters of the CNN model, we optimize feature extraction and systematically reduce model complexity, thereby enhancing the accuracy of brain tumor diagnosis. The critical hyperparameters include batch size, layer counts, learning rate, activation functions, pooling strategies, padding, and filter size. The hyperparameter-tuned CNN model was trained on three different brain MRI datasets available at Kaggle, producing outstanding performance scores, with an average value of 97% for accuracy, precision, recall, and F1-score. Our optimized model is effective, as demonstrated by our methodical comparisons with state-of-the-art approaches. Our hyperparameter modifications enhanced the model performance and strengthened its capacity for generalization, giving medical practitioners a more accurate and effective tool for making crucial judgments regarding brain tumor diagnosis. Our model is a significant step in the right direction toward trustworthy and accurate medical diagnosis, with practical implications for improving patient outcomes.
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  • 文章类型: Journal Article
    胶质母细胞瘤(GBM)是一种原发性中枢神经系统肿瘤,在成人中具有高度致命性,治疗选择有限。尽管在理解GBM生物学方面取得了进展,GBM的标准治疗方法十多年来一直保持不变。只有6.8%的患者存活超过5年。端粒酶,特别是高达80%的GBM病例中存在的hTERT启动子突变,由于其在维持端粒长度和癌细胞增殖中的作用,代表了有希望的治疗靶标。这篇综述研究了GBM中端粒酶的生物学特性,并探讨了潜在的端粒酶靶向疗法。我们根据MEDLINE/PubMed和Scopus数据库中的PRISMA-P指南进行了系统审查,从1995年1月到2024年4月。我们通过使用术语“GBM”搜索合适的文章,“高级别胶质瘤”,“hTERT”和“端粒酶”。我们将针对端粒酶靶向治疗的研究纳入GBM研究,不包括非英语文章,reviews,和荟萃分析。我们共评估了777条记录和46篇全文,包括最终审查中的36项研究。一些旨在抑制hTERT转录的化合物显示了有希望的临床前结果;然而,由于复杂的调节途径和不充分的药代动力学,他们在临床试验中没有成功.直接hTERT抑制剂遇到了许多障碍,包括端粒缩短的潜伏期延长和端粒延长(ALT)的激活。G-四链体DNA稳定剂似乎是潜在的间接抑制剂,但需要进一步的临床研究。Imetelstat,唯一经历过临床试验的端粒酶抑制剂,在各种癌症中都有疗效,但其在GBM中的疗效一直有限。由于复杂的hTERT调节和抑制剂药代动力学不足,GBM中的端粒酶靶向治疗具有挑战性。我们的研究表明,尽管有希望的临床前结果,没有端粒酶抑制剂被批准用于GBM,临床试验基本上没有成功。未来的策略可能包括基于端粒酶的疫苗和多靶点抑制剂,结合对端粒动力学和肿瘤生物学的更好理解,可以提供更有效的治疗方法。这些治疗方法有可能与现有的治疗方法相结合,并改善GBM患者的预后。
    Glioblastoma (GBM) is a primary CNS tumor that is highly lethal in adults and has limited treatment options. Despite advancements in understanding the GBM biology, the standard treatment for GBM has remained unchanged for more than a decade. Only 6.8% of patients survive beyond five years. Telomerase, particularly the hTERT promoter mutations present in up to 80% of GBM cases, represents a promising therapeutic target due to its role in sustaining telomere length and cancer cell proliferation. This review examines the biology of telomerase in GBM and explores potential telomerase-targeted therapies. We conducted a systematic review following the PRISMA-P guidelines in the MEDLINE/PubMed and Scopus databases, from January 1995 to April 2024. We searched for suitable articles by utilizing the terms \"GBM\", \"high-grade gliomas\", \"hTERT\" and \"telomerase\". We incorporated studies addressing telomerase-targeted therapies into GBM studies, excluding non-English articles, reviews, and meta-analyses. We evaluated a total of 777 records and 46 full texts, including 36 studies in the final review. Several compounds aimed at inhibiting hTERT transcription demonstrated promising preclinical outcomes; however, they were unsuccessful in clinical trials owing to intricate regulatory pathways and inadequate pharmacokinetics. Direct hTERT inhibitors encountered numerous obstacles, including a prolonged latency for telomere shortening and the activation of the alternative lengthening of telomeres (ALT). The G-quadruplex DNA stabilizers appeared to be potential indirect inhibitors, but further clinical studies are required. Imetelstat, the only telomerase inhibitor that has undergone clinical trials, has demonstrated efficacy in various cancers, but its efficacy in GBM has been limited. Telomerase-targeted therapies in GBM is challenging due to complex hTERT regulation and inadequate inhibitor pharmacokinetics. Our study demonstrates that, despite promising preclinical results, no Telomerase inhibitors have been approved for GBM, and clinical trials have been largely unsuccessful. Future strategies may include Telomerase-based vaccines and multi-target inhibitors, which may provide more effective treatments when combined with a better understanding of telomere dynamics and tumor biology. These treatments have the potential to be integrated with existing ones and to improve the outcomes for patients with GBM.
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  • 文章类型: Journal Article
    根据运动控制的模块化假设,肌肉在协同作用中被招募,捕捉空间中的肌肉协调,时间,或者两者兼而有之。在过去的二十年里,肌肉协同分析已成为运动控制领域和神经系统患者运动障碍表征的完善框架。经常提出在运动任务期间改变的模块化控制作为表征病理状况的潜在定量度量。因此,本系统综述的目的是分析最近的文献,使用肌肉协同分析神经科患者的运动作为运动康复治疗有效性的指标,涵盖了迄今为止的关键方法论要素。在WebofScience上进行了相关文献的搜索,PubMed,还有Scopus.检索并纳入本综述的15篇全文文章中,大多数都确定了康复干预对肌肉协同作用的影响。然而,使用的实验和方法学方法因研究而异。尽管缺乏研究康复对肌肉协同作用的影响的研究,这篇综述支持肌肉协同作用作为康复治疗有效性标志的实用性,并强调了未来工作需要解决的挑战和开放问题,以在临床实践和决策过程中引入肌肉协同作用。
    According to the modular hypothesis for the control of movement, muscles are recruited in synergies, which capture muscle coordination in space, time, or both. In the last two decades, muscle synergy analysis has become a well-established framework in the motor control field and for the characterization of motor impairments in neurological patients. Altered modular control during a locomotion task has been often proposed as a potential quantitative metric for characterizing pathological conditions. Therefore, the purpose of this systematic review is to analyze the recent literature that used a muscle synergy analysis of neurological patients\' locomotion as an indicator of motor rehabilitation therapy effectiveness, encompassing the key methodological elements to date. Searches for the relevant literature were made in Web of Science, PubMed, and Scopus. Most of the 15 full-text articles which were retrieved and included in this review identified an effect of the rehabilitation intervention on muscle synergies. However, the used experimental and methodological approaches varied across studies. Despite the scarcity of studies that investigated the effect of rehabilitation on muscle synergies, this review supports the utility of muscle synergies as a marker of the effectiveness of rehabilitative therapy and highlights the challenges and open issues that future works need to address to introduce the muscle synergies in the clinical practice and decisional process.
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  • 文章类型: Journal Article
    背景:胶质母细胞瘤(GBM)是一种高度侵袭性,侵入性,和不依赖生长因子的IV级胶质瘤。诊断后的生存率通常很差,中位生存期约为15个月,它被认为是最具侵袭性和致命性的中枢神经系统肿瘤。基于手术的常规治疗方法,化疗,放射治疗只能延缓进展,死亡是不可避免的。恶性胶质瘤细胞对传统疗法有抗药性,可能是由于具有侵袭性并能够快速再生的神经胶质瘤干细胞亚群。
    方法:这是一个文献综述。在PubMed上进行了系统的信息检索,Embase,谷歌学者。PubMed中使用了指定的关键词,检索到的文章发表在同行评审的科学期刊上,并与脑GBM癌症和碘化钠同向转运蛋白(NIS)相关。此外,“放射性核素治疗或间充质,或放射性碘或碘-131或分子成像或基因治疗或翻译成像或靶向或治疗或转运体或病毒或实体瘤或联合治疗或垂体或质粒和胶质母细胞瘤或GBM或GB或神经胶质瘤也用于PubMed和GoogleScholar的适当文献数据库。在这次关于间充质干细胞碘化钠转运体和GBM的搜索中,共发现了68,244篇文章。这些文章直到2024年才被发现。为了研究最新进展,添加了一个过滤器,仅包括2014年至2024年的文章,删除了重复项,与标题无关的文章被排除在外。共78篇。从这些,删除关键词不匹配的文章后,没有检索到9个,只选择了7个。适当的研究被隔离,和重要的信息从他们中的每一个被理解,并输入到数据库中的信息,从这篇文章中使用。
    结果:由于它们天然的识别恶性肿瘤的能力,MSC被用作肿瘤治疗载体。因为可以使用几种方法移植MSCs,它们已被提议作为NIS基因转移的理想载体。在许多肿瘤模型中,MSC已经被用作抗癌药物的递送载体,因为它们能够精确地移动到恶性肿瘤。此外,通过将放射性标记的MSCs直接注射到恶性肿瘤中,可以沉积β辐射的治疗剂量,额外的好处是肿瘤只会定位而不会扩散到周围的健康组织。
    结论:基于非侵入性成像的胶质瘤干细胞检测为监测肿瘤、诊断和评估复发提供了一种替代手段。碘化钠转运体基因是多种人类甲状腺疾病中的特异性基因,其功能是将碘移动到细胞中。近年来,越来越多的研究已经报道了与钠碘转运体基因相关的各种肿瘤以及作为成像和治疗的治疗载体。基因治疗和核医学治疗为GBM提供了新的方向。在所有的临床前研究中,图像引导的细胞治疗带来了更大的生存益处,因此,有可能转化为胶质母细胞瘤治疗试验中的技术。
    BACKGROUND: Glioblastoma (GBM) is a highly aggressive, invasive, and growth factor-independent grade IV glioma. Survival following the diagnosis is generally poor, with a median survival of approximately 15 months, and it is considered the most aggressive and lethal central nervous system tumor. Conventional treatments based on surgery, chemotherapy, and radiation therapy only delay progression, and death is inevitable. Malignant glioma cells are resistant to traditional therapies, potentially due to a subpopulation of glioma stem cells that are invasive and capable of rapid regrowth.
    METHODS: This is a literature review. The systematic retrieval of information was performed on PubMed, Embase, and Google Scholar. Specified keywords were used in PubMed and the articles retrieved were published in peer-reviewed scientific journals and were associated with brain GBM cancer and the sodium iodide symporter (NIS). Additionally, the words \'radionuclide therapy OR mesenchyma, OR radioiodine OR iodine-131 OR molecular imaging OR gene therapy OR translational imaging OR targeted OR theranostic OR symporter OR virus OR solid tumor OR combined therapy OR pituitary OR plasmid AND glioblastoma OR GBM OR GB OR glioma\' were also used in the appropriate literature databases of PubMed and Google Scholar. A total of 68,244 articles were found in this search on Mesenchymal Stem Cell Sodium Iodide Symporter and GBM. These articles were found till 2024. To study recent advances, a filter was added to include articles only from 2014 to 2024, duplicates were removed, and articles not related to the title were excluded. These came out to be 78 articles. From these, nine were not retrieved and only seven were selected after the removal of keyword mismatched articles. Appropriate studies were isolated, and important information from each of them was understood and entered into a database from which the information was used in this article.
    RESULTS: As a result of their natural capacity to identify malignancies, MSCs are employed as tumor therapy vehicles. Because MSCs may be transplanted using several methods, they have been proposed as the ideal vehicles for NIS gene transfer. MSCs have been used as a delivery vector for anticancer drugs in many tumor models due to their capacity to move precisely to malignancies. Also, by directly injecting radiolabeled MSCs into malignant tumors, a therapeutic dosage of beta radiation may be deposited, with the added benefit that the tumor would only localize and not spread to the surrounding healthy tissues.
    CONCLUSIONS: The non-invasive imaging-based detection of glioma stem cells presents an alternate means to monitor the tumor and diagnose and evaluate recurrence. The sodium iodide symporter gene is a specific gene in a variety of human thyroid diseases that functions to move iodine into the cell. In recent years, an increasing number of studies related to the sodium iodide symporter gene have been reported in a variety of tumors and as therapeutic vectors for imaging and therapy. Gene therapy and nuclear medicine therapy for GBM provide a new direction. In all the preclinical studies reviewed, image-guided cell therapy led to greater survival benefits and, therefore, has the potential to be translated into techniques in glioblastoma treatment trials.
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  • 文章类型: Journal Article
    颞叶内侧癫痫(MTLE)是癫痫发作的常见原因,海马硬化(HS)是主要亚型。MTLE-HS中的BRAFV600E突变仅很少报道。在这里,我们说明了神经系统,放射学,以及MTLE-HS和BRAFV600E突变神经元患者的组织病理学细节。一名31岁的男性,患有难治性癫痫,表现为磁共振成像(MRI)和脑电图(EEG),表现为典型的内侧颞叶硬化,没有肿块病变。手术标本显示ILAE1型HS,沿CornuAmmonis(CA)曲率分布的BRAFV600E突变蛋白的神经元免疫阳性。锥体神经元相对于海马表面的垂直方向不是正常的,BRAF突变神经元通常以平行方式定向。在CD34免疫染色,发现CD34+星状细胞和单个免疫阳性星状细胞的稀疏簇或结节。BRAFV600E或CD34免疫阳性细胞少于总细胞的1%。患者对手术反应良好,2年后没有进一步癫痫发作,偶尔有光环。海马BRAF突变型非扩张性病变(HBNL)已用于描述具有保留的细胞结构且没有明显肿瘤块的此类病变。其他人可能会为HS与早期神经节胶质瘤的双重病理辩护。无论是肿瘤前病变还是早期肿瘤,这些病例对于了解早期神经胶质神经元肿瘤发生非常重要,提示在临床试验中,应常规对MTLE-HS病例进行BRAFV600E研究.随着下一代测序,在我们的案例中,几乎一半的等位基因中检测到FANCL缺失,这表明许多组织学上正常的海马细胞都含有这种改变。FANCL突变可导致细胞遗传学异常和DNA修复缺陷,因此可能是低频BRAF改变发展的基础。
    Mesial temporal lobe epilepsy (MTLE) is a common cause of seizures, and hippocampal sclerosis (HS) is the predominant subtype. BRAFV600E mutations in MTLE-HS have only been reported infrequently. Herein, we illustrate the neurologic, radiological, and histopathological details of a patient with MTLE-HS and BRAFV600E mutant neurons. A 31-year-old male with medically refractory epilepsy presented with magnetic resonance imaging (MRI) and electroencephalography (EEG) findings typical of mesial temporal sclerosis without a mass lesion. The surgical specimens showed ILAE Type 1 HS with neurons immunopositive for BRAFV600E mutant protein distributed along the Cornu Ammonis (CA) curvature. Instead of the normal mostly perpendicular orientation of pyramidal neurons relative to the hippocampal surface, the BRAF mutant neurons were often oriented in a parallel manner. On CD34 immunostaining, sparse clusters or nodules of CD34+ stellate cells and single immunopositive stellate cells were identified. BRAFV600E or CD34 immunopositive cells were less than 1 % of total cells. The patient responded well to surgery with no further seizures after 2 years and occasional auras. Hippocampal BRAF mutant non-expansive lesion (HBNL) has been used to describe such lesions with preserved cytoarchitecture and without overt tumor mass. Others may argue for the dual pathology of HS with early ganglioglioma. Whether pre-neoplastic lesions or early tumors, these cases are important for understanding early glioneuronal tumorigenesis and suggest that BRAFV600E studies should be routinely performed on MTLE-HS cases in the setting of clinical trials. With next-generation sequencing, a FANCL deletion was detected in almost half of the alleles in our case, suggesting that many of the histologically normal-appearing cells of the hippocampus contain this alteration. FANCL mutations can result in cytogenetic anomalies and defective DNA repair and therefore may underlie the development of a low frequency BRAF alteration.
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  • 文章类型: Journal Article
    脑膜瘤是最常见的原发性脑肿瘤,在女性中有着明显的优势。肥胖被认为是脑膜瘤发展的危险因素。肥胖也是代谢综合征的临床标志,以葡萄糖不耐受为特征,血脂异常,和高血压。生活方式和代谢因素直接影响超重和肥胖,因此是脑膜瘤发展的潜在危险因素。这项研究的目的是评估女性脑膜瘤风险的生活方式和代谢因素。
    挪威队列(CONOR)是一项全国性的健康调查,在1994年至2003年期间进行,包括人体测量,验血,和健康问卷。与国家癌症登记处的联系使得在2018年12月之前的随访期间能够识别颅内脑膜瘤。
    总共对81,652名妇女进行了长达150万年的随访,并确认了238例颅内脑膜瘤。体力活动水平的增加(HR0.81;95%CI0.68-0.96;p趋势<0.02)和均等(HR0.83;95%CI0.71-0.97;p趋势<0.03)与脑膜瘤风险呈负相关。糖尿病或葡萄糖不耐受增加脑膜瘤的风险(HR2.54;95%CI1.60-4.05)。超重和肥胖与脑膜瘤风险无关,代谢综合征也是如此。然而,没有代谢功能障碍的参与者脑膜瘤风险降低,而存在所有5种代谢因素的参与者患脑膜瘤的风险增加了4倍(HR4.28;95%CI1.34~13.68).
    生活方式因素似乎显著影响脑膜瘤风险。然而,解开脑膜瘤危险因素之间的复杂关联和相互作用将是未来研究的一项具有挑战性的任务.
    UNASSIGNED: Meningioma is the most common primary brain tumor, with a clear preponderance in women. Obesity is considered a risk factor for the development of meningioma. Obesity is also the clinical hallmark of metabolic syndrome, characterized by glucose intolerance, dyslipidemia, and hypertension. Lifestyle and metabolic factors directly impact overweight and obesity and are therefore potential risk factors for meningioma development. The aim of this study is to assess lifestyle and metabolic factors for meningioma risk in women.
    UNASSIGNED: The Cohort of Norway (CONOR) is a nationwide health survey, conducted between 1994 and 2003, including anthropometric measures, blood tests, and health questionnaires. Linkage to the National Cancer Registry enabled the identification of intracranial meningioma during follow-up until December 2018.
    UNASSIGNED: A total of 81,652 women were followed for a combined total of 1.5 million years, and 238 intracranial meningiomas were identified. Increasing levels of physical activity (HR 0.81; 95% CI 0.68-0.96; p trend <0.02) and parity (HR 0.83; 95% CI 0.71-0.97; p trend <0.03) were negatively associated with meningioma risk. Diabetes mellitus or glucose intolerance increased the risk for meningioma (HR 2.54; 95% CI 1.60-4.05). Overweight and obesity were not associated with meningioma risk, nor was metabolic syndrome. However, participants without metabolic dysfunction had a reduced meningioma risk, while participants with all five metabolic factors present had a 4-fold risk increase for meningioma (HR 4.28; 95% CI 1.34-13.68).
    UNASSIGNED: Lifestyle factors seem to significantly influence meningioma risk. However, disentangling the complex associations and interactions between factors for meningioma risk will be a challenging task for future studies.
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